Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109869908T>G , CM000666.2:g.109869908T>G | GRCh38 |
| NC_000004.11:g.110791064T>G , CM000666.1:g.110791064T>G | GRCh37 |
| NC_000004.10:g.111010513T>G | NCBI36 |
| NG_033249.1:g.26725T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.1159T>G MANE Select | NP_940908.3:p.Trp387Gly |
| ENST00000594814.6:c.1159T>G MANE Select | ENSP00000469759.1:p.Trp387Gly |
| NM_198506.4:c.1159T>G | NP_940908.3:p.Trp387Gly |
| ENST00000327908.3:c.610T>G | ENSP00000328222.3:p.Trp204Gly |
| ENST00000594814.5:c.1159T>G | ENSP00000469759.1:p.Trp387Gly |
| XM_005262979.2:c.610T>G | XP_005263036.1:p.Trp204Gly |
| XM_017008167.1:c.610T>G | XP_016863656.1:p.Trp204Gly |